Disorders

Glucose-6-Phosphate Dehydrogenase Deficiency

Synonym(s): G6PD Deficiency

Gene	Locus	Protein
G6PD	Xq28	Glucose-6-phosphate 1-dehydrogenase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, General Laboratory - Salt Lake City, UT, USA	• Enzyme assay
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Targeted mutation analysis
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of select exons
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Mayo Clinic, Metabolic Hematology Laboratory - Rochester, MN, USA	• Enzyme assay
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Targeted mutation analysis • Enzyme assay
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Enzyme assay
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.